GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Fabry Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312402
rs869312402
Entrez Id: 2717;100529097
Gene Symbol: GLA;RPL36A-HNRNPH2
GLA;RPL36A-HNRNPH2
CUI: C0002986
Disease:
Fabry Disease 		0.010 GeneticVariation BEFREE Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5). 26269958 2015